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The R-spondin protein family.
de Lau WB, Snel B, Clevers HC. de Lau WB, et al. Genome Biol. 2012;13(3):242. doi: 10.1186/gb-2012-13-3-242. Genome Biol. 2012. PMID: 22439850 Free PMC article. Review.
In humans, rare disruptions of the gene encoding R-spondin1 cause a syndrome of XX sex reversal (phenotypic male), palmoplantar keratosis (a thickening of the palms and soles caused by excess keratin formation) and predisposition to squamous cell carcinoma of the sk …
In humans, rare disruptions of the gene encoding R-spondin1 cause a syndrome of XX sex reversal (phenotypic male), palmoplanta …
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Tallapaka K, Venugopal V, Dalal A, Aggarwal S. Tallapaka K, et al. Am J Med Genet A. 2018 Apr;176(4):1006-1010. doi: 10.1002/ajmg.a.38646. Am J Med Genet A. 2018. PMID: 29575617 Review.
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive form of SRY-negative 46,XX disorder of sex development. ...RSPO1 acts by activating the canonical beta-catenin pathway a …
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive f …
Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review.
Wei J, Liu C, Zhang M, Liu S, Fu J, Lin P. Wei J, et al. BMC Med Genomics. 2022 Sep 5;15(1):188. doi: 10.1186/s12920-022-01347-0. BMC Med Genomics. 2022. PMID: 36064700 Free PMC article. Review.
BACKGROUND: 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. ...No SOX3 duplication was observed in the parents, who had a …
BACKGROUND: 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue different …